A few months ago, I posted some photos on Facebook of Baby J that emphasized his long extremities: hallmarks of Marfan syndrome. One of my friends commented that it was interesting to see pictures of a baby with Marfan and she wished she had more pictures of herself as a baby. I have lots of pictures of myself as a baby, but not many that seem “Marfy” to me (though my parents didn’t know about my diagnosis at the time).

I love photographing Baby J’s Marfan features, from his long, flat feet to his pectus excavatum (indented chest). I realize this might sound odd, so allow me to explain.

Most of us with Marfan syndrome go through a period of time where we really stick out. This is usually during adolescence, when we’re most concerned about looking like everyone else anyway. When I was in middle school, I was nearly 6 feet tall and weighed 90 pounds. My pectus deformity made my breasts look weird. I was uncoordinated. People noticed, and not in a good way. I felt ugly.

As I got older I’ve gained some perspective, and I see the beauty in Marfan bodies. When I look at the little babies I see some of the cutest babies in the whole world. The teens are so graceful. I desperately want J to have this view his entire life and to never feel as ugly as I did.

I realize the world may look at some of these photographs and see something less than perfect. They may wonder why I focused on the “faults.” I know that as his mother, there will undoubtedly be a time that J will ignore my protestations that he is beautiful because I’m “just his mother” and I “have to say that.” My hope is that by having these photographs he will see I believed in his beauty so much that I made the time to document it for him.

How about you? Anyone else photograph what makes your kids stand out?

Yesterday Baby J had his CPAP fitting. Well, let me step back a bit. Mark and I thought about it, spoke with some trusted medical professionals, and decided against doing the bronchoscopy, etc. for J. Knowing we didn’t want to do surgery yet, there didn’t seem to be any point in putting him through general anesthesia for that series of tests. I explained this to his pulmonologist a couple weeks ago and she scheduled him for a cpap fitting, but warned us that babies can’t always be fit for CPAPs.

Why did we decide against surgery right now? The issue with Marfan is that our connective tissue just isn’t like everyone else’s. It’s not as durable. This can cause everything from aortic aneurysms to dislocated lenses to joint pain and a lot of things in between. Every time I’ve had surgery I’ve had some sort of complication afterwards (maybe not my c-section with J, but it’s possible that it contributed to my lymphedema; we can’t know). Some of these complications have been very serious and required multiple surgeries to correct. We don’t want to take that risk for J at this age, not when a non-invasive option exists. I understand the risk is low for bronchoscopes or even tonsil or adenoid surgery in typical children, but kids with Marfan are not typical children.

Note: I am not saying that it is my belief that all children with Marfan should never have bronchoscopes, etc. I am saying that in this case, for my son who has no apparent surgical cause for his obstructive sleep apnea, that I don’t want to take that risk at this time.

So. I took J in for a fitting yesterday. I am really frustrated. His pulmonologist (a resident) and her attending kept insisting up, down, and sideways that sleep apnea is unrelated to Marfan and that is just. not. true. I’ve always been told that it is and we even had a special workshop on it at conference. But because they didn’t see a connection, the attending physician in particular kept insisting there must be some surgical treatment and therefore couldn’t understand why we aren’t doing the scopes and surgery. She just went on and on and on during the appointment and told me over and over how the baby is going to hate the CPAP and it won’t work and it’ll be a waste. Awesome, huh? Also, J was too small for the only FDA approved mask, so we have to order his mask from a place in Canada and cut it to fit him ourselves.

Oh and her closing line? That when the CPAP doesn’t work, I’ll have to decide whether I want to accept the responsibility of not treating my child’s severe obstructive sleep apnea and therefore the health risks that come with that. When did I ever say I wasn’t going to treat it?! Offensive!

It’ll take a few weeks to get the machine and mask, so until then Baby J will remain on oxygen. His doctor also ordered a chest x-ray today to make sure his lungs look ok, as well as a swallow study. The latter is because he still chokes regularly while nursing, which I’ve been thinking was odd but I was always brushed aside about it. Apparently it’s a sign of low oral tone. Waiting to hear when that study will take place.

When I got home, there was an email from a Marf specialist I’ve been consulting about J’s apnea. The doctor asked for some information on his CO2 levels, so I called his pulmonologist back. Turns out they never took his CO2 levels during his June sleep study! He took off the monitor in his sleep and I guess they didn’t reattach it. Apparently, if his CO2 levels increase during sleep, then being on oxygen could actually make his stats decrease. This means that there is a possibility being on oxygen all this time hasn’t been helpful at all, and could have been harmful. Argh! When the CPAP comes, a pulse ox will come with it and I can monitor his stats then. If they drop, we can assume CO2 is increasing.

After going through all that, the pulmonologist told me she’d received the results of Baby J’s x-ray. While his lungs are normal, he has an eventration: a type of hernia. His liver is pushing up against his lungs and instead of muscle covering it, there is another kind of tissue instead. The good news is that it doesn’t look severe, but we’ll need a fluoroscopy to know more. That will happen at the same time as the swallow study. I feel so sad for him though, and I pray this isn’t causing him any pain and that it won’t require surgery. My hernia surgeries have greatly impacted my life, and I don’t want that for my son.

J will be getting his pneumonia vaccine at his 9 month well-visit. Given all the lung complications that Marfan can cause, I view this as an important vaccine for kids. Apparently an eventration can impact pneumonia risk as well. With cold and flu season around the corner I don’t want to take the risk that a simple chest cold could turn into pneumonia, which could result in a collapsed lung.

All in all, a very long day.

A happier Baby J than I saw today

Musings of a Marfan Mom

Recognizing the Beauty

New Friday Favorites

Sleep Apnea Update